Case report: Functional characterization of a novel CHD7 intronic variant in patients with CHARGE syndrome.

ABSTRACT: Background: Because CHARGE syndrome is characterized by high clinical variability, molecular confirmation of the clinical diagnosis is of pivotal importance. Most patients have a pathogenic variant in the CHD7 gene; however, variants are distributed throughout the gene and most cases are due to de novo mutations. Often, assessing the pathogenetic effect of a variant can be challenging, requiring the design of a unique assay for each specific case. Method: Here we describe a new CHD7 intronic variant, c.5607+17A>G, identified in two unrelated patients. In order to characterize the molecular effect of the variant, minigenes were constructed using exon trapping vectors. Results: The experimental approach pinpoints the pathogenetic effect of the varian

SUBMITTER: Rossi C 

PROVIDER: S-EPMC9947648 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature